EDS

Question 1

What is Ehlers-Danlos syndrome (EDS)?

Answer 1

A group of genetic conditions that cause defects in collagen, leading to hypermobility in joints and abnormalities in connective tissue affecting the skin, bones, blood vessels, and organs.

Question 2

What is an important differential diagnosis for hypermobility in Ehlers-Danlos syndrome?

Answer 2

Marfan syndrome

Key features of Marfan syndrome include a high-arched palate, arachnodactyly (long fingers), and an increased arm span-to-body height ratio.

Question 3

What are the types of Ehlers-Danlos syndrome?

Answer 3

• Hypermobile EDS: The most common and least severe; features joint hypermobility and soft, stretchy skin.
• Classical EDS: Stretchy skin, severe joint hypermobility, and abnormal wound healing.
• Vascular EDS: The most severe, characterized by fragile blood vessels, thin translucent skin, and vascular abnormalities.
• Kyphoscoliotic EDS: Poor muscle tone and kyphoscoliosis with significant joint hypermobility.

Question 4

What is the most common presenting feature of hypermobile EDS?

Answer 4

Joint pain and hypermobility.

Question 5

What are some common symptoms of hypermobile EDS?

Answer 5

• Joint dislocations
• Soft and stretchy skin
• Stretch marks
• Easy bruising
• Poor wound healing
• Chronic pain and fatigue
• Headaches
• Gastrointestinal issues (e.g., reflux, abdominal pain, IBS)
• Autonomic dysfunction (e.g., POTS)

Question 6

What is Postural Orthostatic Tachycardia Syndrome (POTS), and how does it relate to hypermobile EDS?

Answer 6

POTS is caused by autonomic dysfunction and is common in hypermobile EDS. It leads to tachycardia upon standing or sitting, with symptoms like lightheadedness, syncope, headaches, nausea, and tremor.

Question 7

What is the Beighton score, and how is it used?

Answer 7

The Beighton score is a measure of joint hypermobility. It includes tests like placing palms flat on the floor with straight legs, hyperextending elbows, knees, and fingers. A score of 9 is the maximum.

Question 8

How is hypermobile EDS diagnosed?

Answer 8

The diagnosis is primarily clinical, supported by the Beighton score. Genetic testing is helpful for diagnosing other subtypes of EDS.

Question 9

What is the management focus for Ehlers-Danlos syndrome?

Answer 9

There is no cure for EDS. Management focuses on maintaining joint health, managing symptoms, supporting daily activities, and monitoring for complications. Treatment includes physiotherapy, occupational therapy, and psychological support.

Question 10

What are the long-term complications of hypermobility in Ehlers-Danlos syndrome?

Answer 10

Premature osteoarthritis due to additional wear and tear on the joints.